Canonical Allele Identifier: CA2673829204

Gene: NDUFS4

Linked Data

• gnomAD v4: 5-53646208-G-GTTTTTTTTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646217_53646218insTTTTTTTTTTTTT , CM000667.2:g.53646217_53646218insTTTTTTTTTTTTT	GRCh38
NC_000005.9:g.52942047_52942048insTTTTTTTTTTTTT , CM000667.1:g.52942047_52942048insTTTTTTTTTTTTT	GRCh37
NC_000005.8:g.52977804_52977805insTTTTTTTTTTTTT	NCBI36
NG_008200.1:g.90583_90584insTTTTTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.178-16_178-15insTTTTTTTTTTTTT MANE Select	ENSP00000296684.5:n.178-16_178-15insTTTTTTTTTTTTT
ENST00000296684.9:c.178-16_178-15insTTTTTTTTTTTTT	ENSP00000296684.5:n.178-16_178-15insTTTTTTTTTTTTT
ENST00000502423.5:c.*45-16_*45-15insTTTTTTTTTTTTT	ENSP00000422177.1:n.*45-16_*45-15insTTTTTTTTTTTTT
ENST00000506765.1:c.166-16_166-15insTTTTTTTTTTTTT	ENSP00000424570.1:n.166-16_166-15insTTTTTTTTTTTTT
ENST00000506974.5:c.350-16_350-15insTTTTTTTTTTTTT	ENSP00000425967.1:n.350-16_350-15insTTTTTTTTTTTTT
ENST00000507026.5:c.*152-16_*152-15insTTTTTTTTTTTTT	ENSP00000424993.1:n.*152-16_*152-15insTTTTTTTTTTTTT
ENST00000509443.1:n.23_24insTTTTTTTTTTTTT
NM_002495.2:c.178-16_178-15insTTTTTTTTTTTTT	NP_002486.1:n.178-16_178-15insTTTTTTTTTTTTT
XM_005248525.3:c.178-16_178-15insTTTTTTTTTTTTT	XP_005248582.1:n.178-16_178-15insTTTTTTTTTTTTT
XM_011543415.1:c.4-16_4-15insTTTTTTTTTTTTT	XP_011541717.1:n.4-16_4-15insTTTTTTTTTTTTT
NM_001318051.1:c.178-16_178-15insTTTTTTTTTTTTT	NP_001304980.1:n.178-16_178-15insTTTTTTTTTTTTT
NM_002495.3:c.178-16_178-15insTTTTTTTTTTTTT	NP_002486.1:n.178-16_178-15insTTTTTTTTTTTTT
NR_134473.1:n.380-16_380-15insTTTTTTTTTTTTT
NR_134474.1:n.297-16_297-15insTTTTTTTTTTTTT
NR_134475.1:n.332-16_332-15insTTTTTTTTTTTTT
NM_002495.4:c.178-16_178-15insTTTTTTTTTTTTT MANE Select	NP_002486.1:n.178-16_178-15insTTTTTTTTTTTTT
NM_001318051.2:c.178-16_178-15insTTTTTTTTTTTTT	NP_001304980.1:n.178-16_178-15insTTTTTTTTTTTTT
NR_134473.2:n.374-16_374-15insTTTTTTTTTTTTT
NR_134474.2:n.291-16_291-15insTTTTTTTTTTTTT
NR_134475.2:n.326-16_326-15insTTTTTTTTTTTTT